Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing

Abstract: Inherited retinal diseases are clinically and genetically highly heterogeneous conditions with many phenotypic overlaps, syndromic presentations and atypical manifestations. This article is a narrative review that offers an overview of the technical advancements improving the accuracy and efficiency of molecular genetic diagnostics for hereditary disorders in clinical practice. It focuses particularly on the integration of whole genome sequencing (WGS) into routine diagnostics, critically evaluating its potential by discussing recent data from cohort studies conducted worldwide.

Object Details

• Location: Deutsche Nationalbibliothek Frankfurt am Main
• Extent: Online-Ressource
• Language: Englisch

References and Relationships

• Bibliographic citation: Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing ; volume:37 ; number:1 ; year:2025 ; pages:3-10 ; extent:8 ; Medizinische Genetik ; 37, Heft 1 (2025), 3-10 (gesamt 8)

Contributors, Places and Time

• Creator: Stöhr, Heidi ; Weber, Bernhard H. F.

Further information

• DOI: 10.1515/medgen-2024-2049
• URN: urn:nbn:de:101:1-2502120449472.511155613087
• Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Last update: 15.08.2025, 7:33 AM CEST